Presentation
London: Saunders; 1989 14 Harper PS, van Engelen BG, Eymard B, Rogers M, Wilcox D. 99th ENMC international workshop: myotonic dystrophy: present management, future therapy. 9-11 November 2001, Naarden, The Netherlands. [thieme-connect.com]
Respiratoric
- Respiratory Distress
In neonates, it is characterized by hypotonia and respiratory distress often leading to death 1. The disease has a variable onset as it can be seen in adults (adult-onset) and children (congenital form). [radiopaedia.org]
Gastrointestinal
- Constipation
Myotonic dystrophy as a cause of colonic pseudoobstruction: not just another constipated child. Clin Case Rep. 2015;3:424–6. [PMC free article: PMC4498855] [PubMed: 26185641] Gorelik L, Flores A. [ncbi.nlm.nih.gov]
Treatment
This guide tries to establish recommendations for the diagnosis, prognosis, follow-up and treatment of the complications of MD1. [pesquisa.bvsalud.org]
Mexiletine is an effective antimyotonia treatment in myotonic dystrophy type 1. Neurology. 2010;2010;74:1441–8. [ncbi.nlm.nih.gov]
Prognosis
This guide tries to establish recommendations for the diagnosis, prognosis, follow-up and treatment of the complications of MD1. [pesquisa.bvsalud.org]